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Joubert syndrome 27

MONDO:0014927

Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.

Also known as: B9D1 Joubert syndrome, JBTS27, Joubert syndrome 27, Joubert syndrome caused by mutation in B9D1, Joubert syndrome type 27

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Ciliopathy (2) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Joubert syndrome (2) Disease by body system or component (0) Disease by developmental or physiological process (0)
Trials to join now! 1 Completed 1
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